If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.
| pathogenic | likely pathogenic | uncertain significance | likely benign | benign | not provided | total |
|---|---|---|---|---|---|---|
| 0 | 2 | 3 | 0 | 0 | 2 | 6 |
Gene and significance breakdown #
Total genes and gene combinations: 3
| Gene or gene combination | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|
| COL3A1 | 1 | 1 | 1 | 3 |
| TNXB | 1 | 1 | 1 | 2 |
| NOTCH1 | 0 | 1 | 0 | 1 |
Submitter and significance breakdown #
Total submitters: 5
| Submitter | likely pathogenic | uncertain significance | not provided | total |
|---|---|---|---|---|
| GenomeConnect, ClinGen | 0 | 0 | 2 | 2 |
| UCLA Clinical Genomics Center, UCLA | 2 | 0 | 0 | 2 |
| Blueprint Genetics | 0 | 1 | 0 | 1 |
| Fulgent Genetics, Fulgent Genetics | 0 | 1 | 0 | 1 |
| Reproductive Health Research and Development, BGI Genomics | 0 | 1 | 0 | 1 |